Cancer Susceptibility

Colorectal cancer at an early average age (approximately 44 years), with a variable spectrum of extracolonic cancers, characterizes hereditary nonpolyposis colorectal cancer/Lynch syndrome. However, even liberal criteria for the syndrome may miss a percentage of those carrying a mismatch repair mutation, suggesting the need for universal testing of all colorectal cancer patients by microsatellite instability and/ or immunohistochemistry evaluation. Such universal testing should lead to the identification of relatives of syndrome affected who would also benefit from being evaluated for the presence of the syndrome, but family dynamics as well as lack of healthcare provider interest often stand in the way. The proven benefit of appropriate screening, especially colonoscopy, calls for education of all parties as to the importance of syndrome recognition. The U.S. Department of Health and Human Services (HHS), through its Healthy People 2020 initiative has stated that “All people who are newly diagnosed with colorectal cancer should receive counseling and educational materials about genetic testing. Family members could benefit from knowing whether the colorectal cancer in their family is a hereditary form called Lynch syndrome. Screening interventions could potentially reduce the risk of colorectal cancer among men and women with Lynch syndrome by 60 percent .” These recommendations were an endorsement of the statement by the Evaluation of Genomic Application in Practice and Prevention (EGAPP) working group.

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Last date updated on September, 2024